Candidate-gene testing for orphan limb-girdle muscular dystrophies

S. Aurino, G. Piluso, V. Saccone, M. Cacciottolo, F. D'Amico, M. Dionisi, A. Totaro, A. Belsito, U. Di Vicino, Vincenzo Nigro

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3), gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta -sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations hi any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.

Original languageEnglish
Pages (from-to)90-97
Number of pages8
JournalActa Myologica
Volume27
Issue numberDEC.
Publication statusPublished - Dec 2008

Fingerprint

Limb-Girdle Muscular Dystrophies
Orphaned Children
Genes
Sarcoglycans
Filamins
Phenotype
Inborn Genetic Diseases
Phosphopyruvate Hydratase
Muscular Dystrophies
Sequence Homology
Introns
Exons
Animal Models
Mutation
DNA

Keywords

  • Limb-girdle muscular dystrophies

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Aurino, S., Piluso, G., Saccone, V., Cacciottolo, M., D'Amico, F., Dionisi, M., ... Nigro, V. (2008). Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta Myologica, 27(DEC.), 90-97.

Candidate-gene testing for orphan limb-girdle muscular dystrophies. / Aurino, S.; Piluso, G.; Saccone, V.; Cacciottolo, M.; D'Amico, F.; Dionisi, M.; Totaro, A.; Belsito, A.; Di Vicino, U.; Nigro, Vincenzo.

In: Acta Myologica, Vol. 27, No. DEC., 12.2008, p. 90-97.

Research output: Contribution to journalArticle

Aurino, S, Piluso, G, Saccone, V, Cacciottolo, M, D'Amico, F, Dionisi, M, Totaro, A, Belsito, A, Di Vicino, U & Nigro, V 2008, 'Candidate-gene testing for orphan limb-girdle muscular dystrophies', Acta Myologica, vol. 27, no. DEC., pp. 90-97.
Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M et al. Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta Myologica. 2008 Dec;27(DEC.):90-97.
Aurino, S. ; Piluso, G. ; Saccone, V. ; Cacciottolo, M. ; D'Amico, F. ; Dionisi, M. ; Totaro, A. ; Belsito, A. ; Di Vicino, U. ; Nigro, Vincenzo. / Candidate-gene testing for orphan limb-girdle muscular dystrophies. In: Acta Myologica. 2008 ; Vol. 27, No. DEC. pp. 90-97.
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